KLRG1

Chr 12

killer cell lectin like receptor G1

Also known as: 2F1, CLEC15A, MAFA, MAFA-2F1, MAFA-L, MAFA-LIKE

NCBI Gene: 10219 ENSG00000139187 UniProt: Q96E93 OMIM: 604874

The KLRG1 protein is a killer cell lectin-like receptor that inhibits natural killer (NK) cell and T-cell functions by binding to classical cadherins including E-cadherin, serving as a "missing self" recognition mechanism for immune surveillance. This gene is not well-constrained against loss-of-function variants and no specific Mendelian diseases have been definitively associated with KLRG1 mutations in the current literature. Further research is needed to establish clear disease associations and inheritance patterns for this immune receptor gene.

OMIM ResearchSummary from RefSeq, UniProt

Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor (KLR) family, which is a group of transmembrane proteins preferentially expressed in NK cells. Studies in mice suggested that the expression of this gene may be regulated by MHC class I molecules. [provided by RefSeq, Jun 2016]

OMIM ResearchGenerating clinical summary…

Active trials

122

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.18

LOEUF

Multiple*

Mechanism· predicted